BMC GENETICS, vol.14, 2013 (SCI-Expanded)
Article / Article
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Klippel-Feil syndrome, MEOX1, Whole-exome sequencing, Vertebra, Whole genome linkage analysis, SEQUENCING DATA, FEATURES
Middle East Technical University Affiliated:
Background: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.